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Newborn Screening Services in Bahrain between 1985 and 2010.

Authors :Al Arrayed S , Al Hajeri A
Published On :2012
Journal Article


Risk score for predicting long-term mortality after coronary artery bypass graft surgery.

Authors :Wu C , Camacho FT , Wechsler AS , Lahey S , Culliford AT , Jordan D , Gold JP , Higgins RS , Smith CR , Hannan EL
Published On :2012 May 22
Journal Article Research Support, N.I.H., Extramural


Systemic Teriparatide Administration Promotes Osseous Regeneration of an Intrabony Defect: A Case Report.

Authors :Bashutski JD , Kinney JS , Benavides E , Maitra S , Braun TM , Giannobile WV , McCauley LK , Eber RM
Published On :2012 May
Case Reports Journal Article


Nprl3 is required for normal development of the cardiovascular system.

Authors :Kowalczyk MS , Hughes JR , Babbs C , Sanchez-Pulido L , Szumska D , Sharpe JA , Sloane-Stanley JA , Morriss-Kay GM , Smoot LB , Roberts AE , Watkins H , Bhattacharya S , Gibbons RJ , Ponting CP , Wood WG , Higgs DR
Published On :2012 Aug
Journal Article Research Support, Non-U.S. Gov't


The interface of protein structure, protein biophysics, and molecular evolution.

Authors :Liberles DA , Teichmann SA , Bahar I , Bastolla U , Bloom J , Bornberg-Bauer E , Colwell LJ , de Koning AP , Dokholyan NV , Echave J , Elofsson A , Gerloff DL , Goldstein RA , Grahnen JA , Holder MT , Lakner C , Lartillot N , Lovell SC , Naylor G , Perica T , Pollock DD , Pupko T , Regan L , Roger A , Rubinstein N , Shakhnovich E , Sjölander K , Sunyaev S , Teufel AI , Thorne JL , Thornton JW , Weinreich DM , Whelan S
Published On :2012 Jun
Journal Article Research Support, U.S. Gov't, Non-P.H.S. Review


Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

Authors :Hoban R , Roberts AE , Demmer L , Jethva R , Shephard B
Published On :2012 Jun
Case Reports Journal Article


Biosynthesis of piperazic acid via N5-hydroxy-ornithine in Kutzneria spp. 744.

Authors :Neumann CS , Jiang W , Heemstra JR Jr , Gontang EA , Kolter R , Walsh CT
Published On :2012 May 7
Journal Article Research Support, N.I.H., Extramural


Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Authors :Talkowski ME , Rosenfeld JA , Blumenthal I , Pillalamarri V , Chiang C , Heilbut A , Ernst C , Hanscom C , Rossin E , Lindgren AM , Pereira S , Ruderfer D , Kirby A , Ripke S , Harris DJ , Lee JH , Ha K , Kim HG , Solomon BD , Gropman AL , Lucente D , Sims K , Ohsumi TK , Borowsky ML , Loranger S , Quade B , Lage K , Miles J , Wu BL , Shen Y , Neale B , Shaffer LG , Daly MJ , Morton CC , Gusella JF
Published On :2012 Apr 27
Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't


Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Authors :Chahrour MH , Yu TW , Lim ET , Ataman B , Coulter ME , Hill RS , Stevens CR , Schubert CR , ARRA Autism Sequencing Collaboration , Greenberg ME , Gabriel SB , Walsh CA
Published On :2012
Journal Article Research Support, American Recovery and Reinvestment Act Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Authors :Reynolds JJ , Walker AK , Gilmore EC , Walsh CA , Caldecott KW
Published On :2012 Aug
Journal Article Research Support, Non-U.S. Gov't


Advanced reconstructive technologies for periodontal tissue repair.

Authors :Ramseier CA , Rasperini G , Batia S , Giannobile WV
Published On :2012 Jun
Journal Article Research Support, N.I.H., Extramural Review


Mitochondrial genome sequencing of chondrocytes in osteoarthritis by human mitochondria RT2 Profiler™ PCR array.

Authors :Li Z , Shen J , Chen Y , Pan J , Zeng H , Fang H , Ye Z , Zeng C , Zhang R , Cai D
Published On :2012 Jul
Journal Article Research Support, Non-U.S. Gov't


Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.

Authors :Ameur A , Enroth S , Johansson A , Zaboli G , Igl W , Johansson AC , Rivas MA , Daly MJ , Schmitz G , Hicks AA , Meitinger T , Feuk L , van Duijn C , Oostra B , Pramstaller PP , Rudan I , Wright AF , Wilson JF , Campbell H , Gyllensten U
Published On :2012 May 4
Journal Article Research Support, Non-U.S. Gov't



Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors :Poduri A , Evrony GD , Cai X , Elhosary PC , Beroukhim R , Lehtinen MK , Hills LB , Heinzen EL , Hill A , Hill RS , Barry BJ , Bourgeois BF , Riviello JJ , Barkovich AJ , Black PM , Ligon KL , Walsh CA
Published On :2012 Apr 12
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't